Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000155958 | SCV000205670 | uncertain significance | not specified | 2013-08-16 | criteria provided, single submitter | clinical testing | Variant classified as Uncertain Significance - Favor Benign. The Leu3197Ser vari ant in GPR98 has not been reported in individuals with hearing loss or in large population studies. Computational analyses (biochemical amino acid properties, c onservation, AlignGVGD, PolyPhen2, and SIFT) do not provide strong support for a n impact to the protein. Of note, medaka has a serine (Ser) at this position des pite high nearby amino acid conservation. In summary, additional data is needed to determine the clinical significance of this variant; however based upon the l ack of conservation and computation analyses, we would lean towards a more likel y benign role. |